ESPE Abstracts

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) results from gain-of-function mutations in the AVPR2 gene coding for vasopressin receptor 2 (V2R). In contrast, nephrogenic diabetes insipidus (NDI) is caused by loss-of-function mutations in AVPR2. Here we describe and functionally characterize a novel mutation located in the seventh transmembrane domain of V2R. This mutation was identified in a boy suffering from water-induced hyponatrem...

Background: Recently we demonstrated that male adolescents with severe GHD (sGHD) had a significant decrease of lean body mass and increase in fat mass after stop of GH-therapy. The functional consequence of this observation is unknown.Objective and hypotheses: The aim was to study the changes in parameters of jumping mechanography in adolescents with GHD in the transition period (end of growth) after stop of GH-therapy.Patients an...

Background: We aimed to assess whether or not anthropometric indices such as weight circumference (WC), waist/hip ratio (WHR), waist-height ratio (WHtR), and weight for height (W/H) are predictors for metabolic syndrome (MetS) among obese children and adolescents. We aimed to describe effects of gender and pubertal status on these anthropometric indices.Method: A total of 291 obese children and adolescents (160 girls and 131 boys, age range: 6–16 ye...

Objectives: Continuous subcutaneous insulin infusion (CSII) has been associated with lower HbA1c. To explore whether CSII initiation leads to HbA1c improvement in each individual with type-1 diabetes and to identify co-variates which might influence change in HbA1c.Methods: 5,040 pediatric type-1-diabetes subjects (δ20 y, 49% boys, median age at diabetes onset [Q1;Q3]: 5.9 [3.5;8.4] years) ...

Elevated chemerin level is observed in obese patients with metabolic syndrome and arterial hypertension but it is not known if measurement of this hormone have any prognostic value before the occurrence of clinically overt complications of obesity. The aim of the study was to investigate the relationship between serum chemerin level and 24h blood pressure monitoring (ABPM), and intima media thickness in obese children.Methods: The study ...

Background: Depending on age, needs and preferences in insulin therapy strongly differ between children and adolescents with type 1 diabetes (T1D).Objective and hypotheses: To analyse trends in insulin regimen and type of insulin used over the last two decades in three age-groups of pediatric patients with T1D from Germany/Austria.Method: 63 967 subjects (<18 year of age) with T1D documented between 1995 and 2014 from the &#145...

Background: Knowledge on the role of diabetes antibodies in CF related diabetes mellitus (CFRD) is scarce.Objective and hypotheses: We aim to inquire the relevance of ß-cell autoimmunity in CFRD.Methods: The German/Austrian/Luxembourgian diabetes registry DPV was searched for CFRD patients. 878 individuals were analyzed by multivariable regression models.Results: 8.7% of patients with CFRD in our cohort ...

Background: Lipid profiles of type 1 diabetic children are influenced by age, sex, BMI- and HbA1c-values. There is a discrepancy between increased cholesterol levels and the management required. Thus, 26% of patients have dyslipidemia but only 0.4% of them receive lipid lowering medication.Objective and hypothesis: To facilitate child-specific and diabetes-related cholesterol control, we developed a monitoring algorithm derived from population-based refe...

Introduction: Congenital nasal pyriform aperture stenosis (CNPAS) is an increasingly recognised cause of upper airway obstruction associated with holoprosencephaly, of which solitary median maxillary central incisor (SMMCI) is the least severe form. Studies have described pituitary abnormalities in up to 40%. We aimed to determine the use of baseline endocrine investigations and MRI brain in assessing endocrine dysfunction.Method: Retrospective casenote ...

Background: Mutations in PROP1 are the most common known genetic cause of congenital multiple pituitary hormone deficiency (MPHD).Objective and hypotheses: Aim of our study was to clinically and genetically characterize a cohort of Lithuanian patients with MPHD.Method: Seventy-six Lithuanian MPHD patients were tested for PROP1 gene by Sanger sequencing. Hormonal investigations, pituitary imaging and GH therapy wer...